ATM c.4925_4928del ;(p.G1642Vfs*3)

Variant ID: 11-108168029-GGGAT-G

NM_000051.3(ATM):c.4925_4928del;(p.G1642Vfs*3)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

American Journal Of Human Genetics
Halbritter, Jan J; Bizet, Albane A AA; Schmidts, Miriam M; Porath, Jonathan D JD; Braun, Daniela A DA; Gee, Heon Yung HY; McInerney-Leo, Aideen M AM; Krug, Pauline P; Filhol, Emilie E; Davis, Erica E EE; Airik, Rannar R; Czarnecki, Peter G PG; Lehman, Anna M AM; Trnka, Peter P; Nitschké, Patrick P; Bole-Feysot, Christine C; Schueler, Markus M; Knebelmann, Bertrand B; Burtey, Stéphane S; Szabó, Attila J AJ; Tory, Kálmán K; Leo, Paul J PJ; Gardiner, Brooke B; McKenzie, Fiona A FA; Zankl, Andreas A; Brown, Matthew A MA; Hartley, Jane L JL; Maher, Eamonn R ER; Li, Chunmei C; Leroux, Michel R MR; Scambler, Peter J PJ; Zhan, Shing H SH; Jones, Steven J SJ; Kayserili, Hülya H; Tuysuz, Beyhan B; Moorani, Khemchand N KN; Constantinescu, Alexandru A; Krantz, Ian D ID; Kaplan, Bernard S BS; Shah, Jagesh V JV; , ; Hurd, Toby W TW; Doherty, Dan D; Katsanis, Nicholas N; Duncan, Emma L EL; Otto, Edgar A EA; Beales, Philip L PL; Mitchison, Hannah M HM; Saunier, Sophie S; Hildebrandt, Friedhelm F
Publication Date: 2013-11-07

Variant appearance in text: ATD: 4925_4928del
PubMed Link: 24140113
Variant Present in the following documents:
  • Main text
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